Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024325178> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2024325178 endingPage "341" @default.
- W2024325178 startingPage "339" @default.
- W2024325178 abstract "In the present study, we report a single Polish SMA family in which the 17p11.2–p12 duplication causative for the Charcot-Marie-Tooth type 1A disease (CMT1A) was found in addition to a deletion of exons 7 and 8 of the SMN1 gene. A patient harboring both SMA and CMT1A mutations manifested with SMA3 phenotype and foot deformity. Her electrophysiological testing showed chronic neurogenic changes in proximal muscles that are typical for SMA, but also slowed conduction velocity in motor and sensory fibers that is typical for demyelinating neuropathy." @default.
- W2024325178 created "2016-06-24" @default.
- W2024325178 creator A5000873273 @default.
- W2024325178 creator A5015893870 @default.
- W2024325178 creator A5039870984 @default.
- W2024325178 creator A5053951614 @default.
- W2024325178 creator A5070615077 @default.
- W2024325178 creator A5075752827 @default.
- W2024325178 date "2008-04-01" @default.
- W2024325178 modified "2023-09-27" @default.
- W2024325178 title "A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)" @default.
- W2024325178 cites W1981128096 @default.
- W2024325178 cites W2007954199 @default.
- W2024325178 cites W2024202767 @default.
- W2024325178 cites W2043099195 @default.
- W2024325178 cites W2067628329 @default.
- W2024325178 cites W2094108169 @default.
- W2024325178 cites W2135518185 @default.
- W2024325178 cites W2147513845 @default.
- W2024325178 cites W2156404698 @default.
- W2024325178 doi "https://doi.org/10.1016/j.nmd.2008.02.001" @default.
- W2024325178 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18337101" @default.
- W2024325178 hasPublicationYear "2008" @default.
- W2024325178 type Work @default.
- W2024325178 sameAs 2024325178 @default.
- W2024325178 citedByCount "6" @default.
- W2024325178 countsByYear W20243251782014 @default.
- W2024325178 countsByYear W20243251782016 @default.
- W2024325178 countsByYear W20243251782018 @default.
- W2024325178 crossrefType "journal-article" @default.
- W2024325178 hasAuthorship W2024325178A5000873273 @default.
- W2024325178 hasAuthorship W2024325178A5015893870 @default.
- W2024325178 hasAuthorship W2024325178A5039870984 @default.
- W2024325178 hasAuthorship W2024325178A5053951614 @default.
- W2024325178 hasAuthorship W2024325178A5070615077 @default.
- W2024325178 hasAuthorship W2024325178A5075752827 @default.
- W2024325178 hasConcept C104317684 @default.
- W2024325178 hasConcept C114614502 @default.
- W2024325178 hasConcept C142724271 @default.
- W2024325178 hasConcept C161921814 @default.
- W2024325178 hasConcept C2777938335 @default.
- W2024325178 hasConcept C2778045022 @default.
- W2024325178 hasConcept C2778558090 @default.
- W2024325178 hasConcept C2779134260 @default.
- W2024325178 hasConcept C2910134782 @default.
- W2024325178 hasConcept C33923547 @default.
- W2024325178 hasConcept C36823959 @default.
- W2024325178 hasConcept C54355233 @default.
- W2024325178 hasConcept C71924100 @default.
- W2024325178 hasConcept C86803240 @default.
- W2024325178 hasConceptScore W2024325178C104317684 @default.
- W2024325178 hasConceptScore W2024325178C114614502 @default.
- W2024325178 hasConceptScore W2024325178C142724271 @default.
- W2024325178 hasConceptScore W2024325178C161921814 @default.
- W2024325178 hasConceptScore W2024325178C2777938335 @default.
- W2024325178 hasConceptScore W2024325178C2778045022 @default.
- W2024325178 hasConceptScore W2024325178C2778558090 @default.
- W2024325178 hasConceptScore W2024325178C2779134260 @default.
- W2024325178 hasConceptScore W2024325178C2910134782 @default.
- W2024325178 hasConceptScore W2024325178C33923547 @default.
- W2024325178 hasConceptScore W2024325178C36823959 @default.
- W2024325178 hasConceptScore W2024325178C54355233 @default.
- W2024325178 hasConceptScore W2024325178C71924100 @default.
- W2024325178 hasConceptScore W2024325178C86803240 @default.
- W2024325178 hasIssue "4" @default.
- W2024325178 hasLocation W20243251781 @default.
- W2024325178 hasLocation W20243251782 @default.
- W2024325178 hasOpenAccess W2024325178 @default.
- W2024325178 hasPrimaryLocation W20243251781 @default.
- W2024325178 hasRelatedWork W1991297607 @default.
- W2024325178 hasRelatedWork W1997153608 @default.
- W2024325178 hasRelatedWork W2024325178 @default.
- W2024325178 hasRelatedWork W2033399914 @default.
- W2024325178 hasRelatedWork W2094072263 @default.
- W2024325178 hasRelatedWork W2132110012 @default.
- W2024325178 hasRelatedWork W2741535369 @default.
- W2024325178 hasRelatedWork W3108608859 @default.
- W2024325178 hasRelatedWork W3143417216 @default.
- W2024325178 hasRelatedWork W2783080372 @default.
- W2024325178 hasVolume "18" @default.
- W2024325178 isParatext "false" @default.
- W2024325178 isRetracted "false" @default.
- W2024325178 magId "2024325178" @default.
- W2024325178 workType "article" @default.